Variant Details

Variant: nsv469848

Internal ID

15187877

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:1146082..1322235	hg38	UCSC Ensembl
Inner	chr1:1081462..1257615	hg19	UCSC Ensembl
Inner	chr1:1071325..1247478	hg18	UCSC Ensembl
Inner	chr1:987520..1163673	hg16	UCSC Ensembl

Cytoband

1p36.33

Allele length

Assembly	Allele length
hg38	176154
hg19	176154
hg18	176154
hg16	176154

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1675776, nssv1672249, nssv1675926, nssv1672854, nssv1675128, nssv1673022, nssv1672602, nssv1675676, nssv1676397, nssv1672396, nssv1674008, nssv1672390, nssv1673850, nssv1672307, nssv1674115, nssv1674168, nssv1672366, nssv1672738, nssv1673267, nssv1675327, nssv1673400, nssv1672244, nssv1675455, nssv1673733, nssv1674068, nssv1676596, nssv1674359, nssv1674135, nssv1673139, nssv1674020, nssv1676084, nssv1675314, nssv1673518, nssv1672094, nssv1672467, nssv1674296, nssv1674019, nssv1675375, nssv1675619, nssv1672102, nssv1675739, nssv1674285, nssv1674154, nssv1676561, nssv1676489, nssv1675446, nssv1673131, nssv1673798, nssv1674548, nssv1676663, nssv1672626, nssv1675837, nssv1673413, nssv1674236, nssv1676085, nssv1675092, nssv1676113, nssv1673566

Samples

Known Genes

ACAP3, B3GALT6, CPSF3L, FAM132A, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2

Method

BAC aCGH

Analysis

A locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.

Platform

GPL4010

Comments

Reference

Locke_et_al_2006

Pubmed ID

16826518

Accession Number(s)

nsv469848

Frequency

Sample Size	265
Observed Gain	58
Observed Loss	0
Observed Complex	0
Frequency	n/a