A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517006

Internal ID

15097613

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:143823646..144135334	hg38	UCSC Ensembl
Inner	chr4:144744799..145056487	hg19	UCSC Ensembl
Inner	chr4:144964249..145275937	hg18	UCSC Ensembl
Inner	chr4:145102404..145414092	hg17	UCSC Ensembl

Cytoband

4q31.21

Allele length

Assembly	Allele length
hg38	311689
hg19	311689
hg18	311689
hg17	311689

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv680094, nssv687180, nssv665617, nssv675283, nssv676965, nssv665048, nssv674316, nssv678199, nssv679859, nssv671448, nssv692384, nssv683786, nssv680519, nssv680777, nssv672323, nssv703052, nssv666352, nssv665972, nssv651786, nssv675644, nssv671301, nssv653791, nssv656364, nssv675234, nssv688800, nssv664261, nssv656788, nssv661638, nssv686844, nssv668561, nssv673877, nssv683695, nssv656496, nssv664042, nssv667980, nssv671944, nssv696468, nssv685822, nssv671241, nssv667156, nssv685303, nssv671240, nssv681339, nssv684055, nssv653036, nssv658334, nssv678648, nssv658131, nssv665047, nssv669869, nssv689314, nssv700185, nssv679476, nssv698386, nssv681382, nssv691658, nssv661076, nssv685881, nssv670350, nssv689271, nssv660544, nssv687033, nssv654409, nssv695482, nssv659437, nssv653603, nssv669388, nssv659022, nssv675150, nssv660598, nssv652204, nssv662152, nssv666948, nssv676940, nssv674987, nssv689517, nssv658626, nssv671857, nssv678869, nssv656365, nssv663491, nssv673972, nssv670171, nssv654503, nssv660656, nssv693068, nssv686881, nssv681582, nssv667755, nssv657369, nssv679442, nssv673489, nssv676087

Samples

Known Genes

GYPA, GYPB, GYPE

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	6
Observed Loss	87
Observed Complex	0
Frequency	n/a