Variant Details

Variant: nsv442542

Internal ID

15501261

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:39827488..39840169	hg38	UCSC Ensembl
Inner	chr9:41972506..41985187	hg19	UCSC Ensembl
Inner	chr9:41962506..41975187	hg18	UCSC Ensembl
Inner	chr9:41889553..41902234	hg17	UCSC Ensembl

Cytoband

9p12

Allele length

Assembly	Allele length
hg38	12682
hg19	12682
hg18	12682
hg17	12682

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1639041, nssv1639148, nssv1639164, nssv1639131, nssv1639138, nssv1639091, nssv1639046, nssv1639196, nssv1639144, nssv1639043, nssv1639086, nssv1639132, nssv1639048, nssv1639105, nssv1639115, nssv1639081, nssv1639104, nssv1639125, nssv1639107, nssv1639052, nssv1639113, nssv1639187, nssv1639123, nssv1639202, nssv1639063, nssv1639190, nssv1639120, nssv1639082, nssv1639139, nssv1639038, nssv1639174, nssv1639143, nssv1639073, nssv1639160, nssv1639140, nssv1639147, nssv1639191, nssv1639199, nssv1639153, nssv1639061, nssv1639111, nssv1639039, nssv1639093, nssv1639189, nssv1639079, nssv1639185, nssv1639178, nssv1639045, nssv1639117, nssv1639078, nssv1639135, nssv1639077, nssv1639146, nssv1639089, nssv1639067, nssv1639068, nssv1639130, nssv1639065, nssv1639183, nssv1639177, nssv1639203, nssv1639058, nssv1639124, nssv1639101, nssv1639168, nssv1639142, nssv1639172, nssv1639166, nssv1639098, nssv1639119, nssv1639075, nssv1639095, nssv1639188, nssv1639106, nssv1639175, nssv1639193, nssv1639088, nssv1639197, nssv1639102, nssv1639184, nssv1639180, nssv1639150, nssv1639163, nssv1639109, nssv1639096, nssv1639076, nssv1639071, nssv1639195, nssv1639158, nssv1639066, nssv1639080, nssv1639040, nssv1639044, nssv1639186, nssv1639179, nssv1639060, nssv1639070, nssv1639090, nssv1639057, nssv1639126, nssv1639201, nssv1639149, nssv1639042, nssv1639127, nssv1639162, nssv1639037, nssv1639192, nssv1639171, nssv1639036, nssv1639145, nssv1639176, nssv1639137, nssv1639136, nssv1639053, nssv1639204, nssv1639083, nssv1639155, nssv1639064, nssv1639047, nssv1639154, nssv1639051, nssv1639194, nssv1639182, nssv1639151, nssv1639206, nssv1639100, nssv1639121, nssv1639200, nssv1639141, nssv1639085, nssv1639062, nssv1639205, nssv1639133, nssv1639167, nssv1639054, nssv1639050, nssv1639165, nssv1639059, nssv1639108, nssv1639072, nssv1639122, nssv1639152, nssv1639049, nssv1639129, nssv1639097, nssv1639094, nssv1639056, nssv1639161, nssv1639128, nssv1639069, nssv1639181, nssv1639110, nssv1639134, nssv1639198, nssv1639169, nssv1639170, nssv1639118, nssv1639173, nssv1639114, nssv1639055, nssv1639157, nssv1639074, nssv1639156, nssv1639116, nssv1639103, nssv1639087, nssv1639159, nssv1639099, nssv1639112, nssv1639084, nssv1639092

Samples

NA18502, NA12717, NA19222, NA11830, NA18947, NA11995, NA11829, NA18592, NA18508, NA10851, NA18524, NA18980, NA18855, NA18561, NA19145, NA18999, NA18603, NA12751, NA12801, NA12248, NA12146, NA18959, NA12865, NA10857, NA19098, NA18633, NA12750, NA12155, NA07357, NA18969, NA18967, NA18563, NA19127, NA19005, NA18944, NA18940, NA12812, NA19201, NA10835, NA10846, NA10854, NA18635, NA18860, NA18558, NA18547, NA19131, NA18960, NA18942, NA11992, NA07048, NA18571, NA12762, NA18964, NA06993, NA18949, NA18611, NA12761, NA12005, NA18970, NA07019, NA12156, NA19137, NA19238, NA11994, NA19207, NA19172, NA18966, NA12815, NA19159, NA18990, NA10855, NA19239, NA10839, NA18973, NA19200, NA11993, NA19007, NA11831, NA18951, NA12760, NA07022, NA19194, NA12753, NA12003, NA10863, NA19152, NA19161, NA18859, NA18515, NA19205, NA18991, NA18516, NA18637, NA18579, NA18871, NA18572, NA18976, NA18948, NA18981, NA19221, NA19202, NA18566, NA18573, NA19142, NA19000, NA11840, NA10830, NA12249, NA18912, NA18532, NA12145, NA19099, NA18555, NA12144, NA18523, NA10856, NA18593, NA19012, NA18974, NA18576, NA12043, NA18608, NA18953, NA19003, NA18978, NA18914, NA18632, NA18542, NA11881, NA18961, NA18952, NA12864, NA18863, NA18564, NA12057, NA19140, NA19240, NA19100, NA12873, NA19144, NA18992, NA12874, NA07348, NA12763, NA07055, NA18594, NA12740, NA18971, NA18987, NA19211, NA19093, NA10860, NA18500, NA18609, NA18854, NA18972, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA07000, NA18522, NA12154, NA07034, NA18622, NA18965, NA18620, NA18997

Known Genes

KGFLP2

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442542

Frequency

Sample Size	270
Observed Gain	19
Observed Loss	152
Observed Complex	0
Frequency	n/a