A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517070

Internal ID

15097677

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:212988531..213006985	hg38	UCSC Ensembl
Inner	chr2:213853255..213871709	hg19	UCSC Ensembl
Inner	chr2:213561500..213579954	hg18	UCSC Ensembl
Inner	chr2:213678761..213697215	hg17	UCSC Ensembl

Cytoband

2q34

Allele length

Assembly	Allele length
hg38	18455
hg19	18455
hg18	18455
hg17	18455

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv660127, nssv656336, nssv658382, nssv660994, nssv682602, nssv688704, nssv692709, nssv661277, nssv677814, nssv661069, nssv653955, nssv663893, nssv654388, nssv678687, nssv677732, nssv693636, nssv655471, nssv675091, nssv665928, nssv661760, nssv669531, nssv665729, nssv656803, nssv691382, nssv668493, nssv671524, nssv684694, nssv660690, nssv662817, nssv678459, nssv682133, nssv680149, nssv675114, nssv672765, nssv660437, nssv671625, nssv676866, nssv657843, nssv665867, nssv661386, nssv682960, nssv674200, nssv669968, nssv679541, nssv667900, nssv674980, nssv652098, nssv693782, nssv666626, nssv663650, nssv692806, nssv665950, nssv685207, nssv692687, nssv690367, nssv673164, nssv653902, nssv664950, nssv661323, nssv658326, nssv682882, nssv681082, nssv670006, nssv657252, nssv662886, nssv669014, nssv692210, nssv692061, nssv666320, nssv691504, nssv693880, nssv672529, nssv658230, nssv690129, nssv673479, nssv672593, nssv663577, nssv689975, nssv664034, nssv673280, nssv667599, nssv678096, nssv676423, nssv652510, nssv653369, nssv678673, nssv660834, nssv693409, nssv675365, nssv670677, nssv658015, nssv653728, nssv656783, nssv692470, nssv670244, nssv685599, nssv681217, nssv677375, nssv681376, nssv684833, nssv678511, nssv692732, nssv670963, nssv701255, nssv688554, nssv686622, nssv683262, nssv686915, nssv684756, nssv699695, nssv656637, nssv674122, nssv680970, nssv692124, nssv686839, nssv689177, nssv680650, nssv680431, nssv653862, nssv692850, nssv666969, nssv691227, nssv682658, nssv667946, nssv688638, nssv654699, nssv691753, nssv691456, nssv690001, nssv693286, nssv682807, nssv671492, nssv684361, nssv674778, nssv659337, nssv688189, nssv662929, nssv684103, nssv690213, nssv668848, nssv656437, nssv690658, nssv694032, nssv657665, nssv689092, nssv672926, nssv655120, nssv693745, nssv662950, nssv681645, nssv668955, nssv664108, nssv656474, nssv665171, nssv678534, nssv659663, nssv675311, nssv656007, nssv665056, nssv674750, nssv666129, nssv688450, nssv677240, nssv673186, nssv660593

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	0
Observed Loss	165
Observed Complex	0
Frequency	n/a